Kalscheuer, V. M. Chromosome Rearrangements and Disease (Vera Kalscheuer), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;
http://www.ncbi.nlm.nih.gov/pubmed/26310293 (Any fulltext)
Guy.pdf (Publisher version), 2MB
Guy, M. P., Shaw, M., Weiner, C. L., Hobson, L., Stark, Z., Rose, K., et al. (2015). Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. Human Mutation, 36(12), 1176-1187. doi:10.1002/humu.22897.